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Article

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Feb 2004

Hoefele Julia, Otto Edgar, Felten Helmut, Kühn Karlwilhelm, Bley Thorsten A, Zäuner Ingeborg, Hildebrandt Friedhelm, Neumann Hartmut P H

Abstract excerpt

Nephronophthisis (NPH) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPH leads to end-stage renal failure in the first 2 decades of life. Four genes responsible for different types of NPH have been ide...

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Source

Identifiers

PMID: 14750102
DOI: 10.1053/j.ajkd.2003.10.023

Genes

NPHP4
NPHP1
NPHP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14750102-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.PMID 14750102Read ↗

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